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Autor:
Ulf Diekmann, Malte Sgodda, Dirk Hoffmann, Axel Schambach, Nicolas M.B. Huber, Falk F. R. Buettner, Erdmann Rapp, Robert Weiβmann, Samanta Cajic, Christina T. Thiesler, Doris Steinemann, Laura van Diepen, Tobias Cantz, René Hennig, Christian Körner, Astrid Oberbeck, Christian Thiel, Andreas W. Kuss, Udo Reichl
Publikováno v:
Molecular & Cellular Proteomics : MCP
Molecular and Cellular Proteomics
Molecular and Cellular Proteomics
PMM2-CDG, formerly known as congenital disorder of glycosylation-Ia (CDG-Ia), is caused by mutations in the gene encoding phosphomannomutase 2 (PMM2). This disease is the most frequent form of inherited CDG-diseases affecting protein N-glycosylation